Hasanzadeh-NazarAbadi Mohammad, Baghbani Fatemeh, Namazi Iman, Mirzaee Salmeh
Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Iran J Reprod Med. 2014 Aug;12(8):581-5.
Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced chromosomal rearrangement and cytogenetic disorders, 10 members of related family with consanguinity marriage with the history of recurrent miscarriage were assessed.
Cytogenetic evaluation on the basis G-banding technique at high resolution was performed in 3 couples and their related family with the history of idiopathic RSA in order to postulate any balanced chromosomal rearrangement.
six members of them appeared with robertsonian balanced translocation between chromosome No.21 to No. 14 with the karyotype of 45, XX, t (14, 21) and 45, XY, t (14, 21), which this results are in agreement with several similar works which claimed that the risk of spontaneous abortion in couples with balanced chromosomal rearrangements is higher compared with general population. Considering to results of present study, it seems as if the cytogenetic analysis of couples with the history of recurrent abortions should be suggested compulsory to estimate the probable presence of any chromosomal rearrangement. This offer wills valuable information for genetic consulting.
全球每年约有2.05亿例妊娠。另一方面,据报道,在所有确诊的妊娠中,15%-20%会发生自然流产。自然流产最常见的原因是胚胎染色体异常。罗伯逊易位携带者,特别是21-14易位携带者,是有自然流产史的携带者夫妇中最常见的平衡重排类型。为了寻找平衡染色体重排和细胞遗传学疾病,对10名有近亲结婚史且有反复流产史的相关家庭成员进行了评估。
对3对有不明原因复发性流产史的夫妇及其相关家庭成员进行了基于高分辨率G显带技术的细胞遗传学评估,以推测是否存在任何平衡染色体重排。
其中6名成员出现了21号染色体与14号染色体之间的罗伯逊平衡易位,核型为45, XX, t(14, 21)和45, XY, t(14, 21),这一结果与几项类似研究一致,这些研究称,与普通人群相比,有平衡染色体重排的夫妇自然流产的风险更高。考虑到本研究的结果,似乎应该建议对有反复流产史的夫妇进行细胞遗传学分析,以评估是否可能存在任何染色体重排。这一建议将为遗传咨询提供有价值的信息。